Creating Awareness for Primary Immunodeficiencies in Japan

Area of Science:

• Immunology
• Genetics
• Infectious Diseases

Background:

• Primary immunodeficiency (PID) primarily presents as susceptibility to infections, but can also involve autoimmune, autoinflammatory, and malignant conditions.
• The classification of PID has evolved, with the term inborn errors of immunity (IEI) now preferred, reflecting an expansion from 110 diseases in 1999 to 430 in 2019.
• Raising awareness of IEI is crucial for providing appropriate medical services and improving patient outcomes.

Purpose of the Study:

• To summarize the findings of three nationwide surveys on PID conducted in Japan over the past 15 years.
• To enhance awareness of PID/IEI among healthcare professionals.
• To provide insights into the appropriate management of specific IEI, using Interleukin-1 receptor-associated kinase 4 (IRAK4) deficiency as a case study.

Main Methods:

• Analysis of data from three nationwide PID surveys conducted in Japan.
• Focus on PID incidence, complications, viral infection clinical course, and prevention strategies.
• Review and discussion of IRAK4 deficiency as a representative IEI for management awareness.

Main Results:

• The surveys provided comprehensive data on the epidemiology and clinical spectrum of PID in Japan.
• Findings underscore the increasing number of identified IEI and their diverse clinical manifestations.
• The review highlights the importance of targeted awareness campaigns and management protocols for specific IEI.

Conclusions:

• Nationwide surveys are essential for understanding the landscape of IEI and informing clinical practice.
• Increased awareness and knowledge of IEI, including specific conditions like IRAK4 deficiency, are vital for timely diagnosis and effective management.
• Continued research and data collection are necessary to improve care for individuals with inborn errors of immunity.